Incidental Mutation 'R2968:Fam83g'
| ID |
263320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83g
|
| Ensembl Gene |
ENSMUSG00000042377 |
| Gene Name |
family with sequence similarity 83, member G |
| Synonyms |
wly, 2310040C09Rik |
| MMRRC Submission |
040524-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R2968 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
61574917-61600777 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61594304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 613
(S613T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051552]
[ENSMUST00000093019]
[ENSMUST00000148584]
[ENSMUST00000151780]
|
| AlphaFold |
Q5SWY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051552
|
| SMART Domains |
Protein: ENSMUSP00000054407
Gene: ENSMUSG00000042371
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
50 |
479 |
2.4e-139 |
PFAM |
|
transmembrane domain
|
513 |
535 |
N/A |
INTRINSIC |
|
transmembrane domain
|
576 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093019
AA Change: S613T
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090697
Gene: ENSMUSG00000042377
AA Change: S613T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1669
|
15 |
309 |
1.8e-120 |
PFAM |
|
Pfam:PLDc_2
|
165 |
304 |
5.5e-11 |
PFAM |
|
low complexity region
|
316 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
585 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
721 |
731 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128196
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148584
|
| SMART Domains |
Protein: ENSMUSP00000114523
Gene: ENSMUSG00000042371
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
50 |
479 |
2.4e-139 |
PFAM |
|
transmembrane domain
|
513 |
535 |
N/A |
INTRINSIC |
|
transmembrane domain
|
576 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151780
|
| SMART Domains |
Protein: ENSMUSP00000118196
Gene: ENSMUSG00000042371
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
48 |
185 |
3.5e-44 |
PFAM |
|
Pfam:SSF
|
182 |
450 |
5e-79 |
PFAM |
|
transmembrane domain
|
484 |
506 |
N/A |
INTRINSIC |
|
transmembrane domain
|
547 |
566 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutations at this locus result in curly hair. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,911,485 (GRCm39) |
I1113N |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,111,732 (GRCm39) |
S211T |
probably damaging |
Het |
| Celsr3 |
G |
T |
9: 108,709,390 (GRCm39) |
C1412F |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,300,159 (GRCm39) |
Y331C |
probably damaging |
Het |
| Cntln |
T |
A |
4: 84,875,504 (GRCm39) |
S313T |
probably benign |
Het |
| Ddx54 |
T |
A |
5: 120,756,694 (GRCm39) |
D134E |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,699,881 (GRCm39) |
D244G |
possibly damaging |
Het |
| Dsg3 |
A |
T |
18: 20,658,282 (GRCm39) |
T298S |
possibly damaging |
Het |
| Dusp1 |
A |
T |
17: 26,726,679 (GRCm39) |
F128I |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Grep1 |
A |
G |
17: 23,934,785 (GRCm39) |
F149S |
possibly damaging |
Het |
| Ighv8-12 |
C |
T |
12: 115,611,570 (GRCm39) |
R118Q |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Mrgprb5 |
T |
A |
7: 47,818,317 (GRCm39) |
R139S |
probably damaging |
Het |
| Or51b6 |
T |
C |
7: 103,556,519 (GRCm39) |
V291A |
probably benign |
Het |
| Pcbp1 |
C |
T |
6: 86,502,471 (GRCm39) |
E143K |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,319,590 (GRCm39) |
S572P |
probably damaging |
Het |
| Serpina3n |
C |
T |
12: 104,375,333 (GRCm39) |
T135M |
probably benign |
Het |
| Spink11 |
A |
T |
18: 44,328,777 (GRCm39) |
F24I |
possibly damaging |
Het |
| Tes |
A |
G |
6: 17,096,233 (GRCm39) |
T74A |
probably benign |
Het |
| Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
| Wdr75 |
A |
G |
1: 45,856,501 (GRCm39) |
D508G |
probably damaging |
Het |
|
| Other mutations in Fam83g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02121:Fam83g
|
APN |
11 |
61,575,609 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02958:Fam83g
|
APN |
11 |
61,598,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4402001:Fam83g
|
UTSW |
11 |
61,594,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0365:Fam83g
|
UTSW |
11 |
61,593,935 (GRCm39) |
nonsense |
probably null |
|
|
R0410:Fam83g
|
UTSW |
11 |
61,594,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Fam83g
|
UTSW |
11 |
61,598,489 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1163:Fam83g
|
UTSW |
11 |
61,594,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1413:Fam83g
|
UTSW |
11 |
61,593,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Fam83g
|
UTSW |
11 |
61,593,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Fam83g
|
UTSW |
11 |
61,585,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Fam83g
|
UTSW |
11 |
61,593,801 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2105:Fam83g
|
UTSW |
11 |
61,594,284 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2134:Fam83g
|
UTSW |
11 |
61,594,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4274:Fam83g
|
UTSW |
11 |
61,592,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4753:Fam83g
|
UTSW |
11 |
61,586,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5888:Fam83g
|
UTSW |
11 |
61,593,420 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6280:Fam83g
|
UTSW |
11 |
61,594,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7234:Fam83g
|
UTSW |
11 |
61,593,342 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7257:Fam83g
|
UTSW |
11 |
61,575,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7588:Fam83g
|
UTSW |
11 |
61,575,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7761:Fam83g
|
UTSW |
11 |
61,575,584 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9624:Fam83g
|
UTSW |
11 |
61,575,328 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Fam83g
|
UTSW |
11 |
61,598,296 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1186:Fam83g
|
UTSW |
11 |
61,594,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Fam83g
|
UTSW |
11 |
61,594,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Fam83g
|
UTSW |
11 |
61,594,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Fam83g
|
UTSW |
11 |
61,594,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Fam83g
|
UTSW |
11 |
61,594,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Fam83g
|
UTSW |
11 |
61,594,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Fam83g
|
UTSW |
11 |
61,594,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCATCTATGACGCAGGATG -3'
(R):5'- CACTTTGGGATGAAGGGAGC -3'
Sequencing Primer
(F):5'- ATGACCCTGATGGCCTGGAG -3'
(R):5'- TGAGCCTGCCTGTCCATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation